EARLY ONSET MUSCULAR-DYSTROPHY WITH AUTOSOMAL-DOMINANT HEREDITY - REPORT OF A FAMILY AND CT FINDINGS OF SKELETAL-MUSCLE

The clinical features and muscle pathology in a female infant and her mother with early onset and slowly progressive muscular dystrophy (MD) , possibly transmitted through autosomal dominant inheritance, are des cribed. The mother exhibited multiple joint contractures at birth. The daughter had mild proximal muscle weakness at 2 3/12 years old. The m uscle biopsy specimens from both patients showed myopathic changes wit h evidence of fiber necrosis and regeneration. Computed tomographic (C T) findings of their skeletal muscles suggested that proximal muscles were involved at an early stage, with later gradual involvement of gen eralized muscles, without a characteristic selectivity pattern in thig h muscles. This may possibly be a clinically benign and distinct varia nt of MD with a slowly degenerating pattern of skeletal muscles on CT.